KEGG   Homo sapiens (human): 4719
Entry
4719              CDS       T01001                                 
Symbol
NDUFS1, CI-75Kd, CI-75k, MC1DN5, PRO1304
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S1
  KO
K03934  NADH dehydrogenase (ubiquinone) Fe-S protein 1 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4719 (NDUFS1)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4719 (NDUFS1)
  09159 Environmental adaptation
   04714 Thermogenesis
    4719 (NDUFS1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4719 (NDUFS1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4719 (NDUFS1)
   05012 Parkinson disease
    4719 (NDUFS1)
   05014 Amyotrophic lateral sclerosis
    4719 (NDUFS1)
   05016 Huntington disease
    4719 (NDUFS1)
   05020 Prion disease
    4719 (NDUFS1)
   05022 Pathways of neurodegeneration - multiple diseases
    4719 (NDUFS1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4719 (NDUFS1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4719 (NDUFS1)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4719 (NDUFS1)
SSDB
Motif
Pfam: Molybdopterin Nqo3_Fer4 NDSU1_4Fe-4S Fer2_4 NADH-G_4Fe-4S_3 NADH_dhqG_C Fer2
Other DBs
NCBI-GeneID: 4719
NCBI-ProteinID: NP_004997
OMIM: 157655
HGNC: 7707
Ensembl: ENSG00000023228
Pharos: P28331(Tclin)
UniProt: P28331 E5KRK5
Structure
LinkDB
Position
2:complement(206114817..206159444)
AA seq 727 aa
MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQI
PRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFL
LANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCT
RCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYAFTA
RPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQ
RLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNR
VDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRK
SWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSA
LQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKN
PPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTE
GRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIE
GANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQA
VEEPSIC
NT seq 2184 nt   +upstreamnt  +downstreamnt
atgttaaggatacctgtaagaaaggccttagtaggcctttctaagtctcctaaaggatgt
gttcgaacaactgccacagcagcaagcaacttgattgaagtatttgttgatggtcagtct
gtcatggtggaaccgggaacgaccgtcctccaagcttgtgagaaggttggcatgcagatc
cctcgattctgttatcatgaaaggttgtctgttgctggaaactgcaggatgtgccttgtt
gaaattgagaaagcccctaaggttgtagctgcttgtgccatgccagtaatgaagggttgg
aatatcctaacaaactcagaaaaatccaaaaaagccagggaaggtgtgatggagttctta
ttagcaaatcacccattggactgtcctatttgtgaccagggaggtgaatgtgatctgcag
gaccagtccatgatgtttggaaatgataggagccgatttttagaggggaagcgtgctgtg
gaagacaagaacattgggccattggtaaagaccatcatgacaagatgtatacagtgtact
cgctgcatcaggtttgcaagtgagattgcaggagtagatgatttgggaacaacaggcaga
ggaaatgatatgcaagttggcacatacattgaaaagatgttcatgtctgaactgtctggg
aatatcattgatatctgccctgtaggtgccctaacctctaagccctatgcctttactgcc
cggccttgggaaacaagaaagacagaatccattgatgtaatggatgcggttggaagtaat
attgtggttagcacaagaactggagaagtgatgaggattttgccacgtatgcatgaggac
atcaatgaagagtggatctctgataaaaccagatttgcctatgatgggctaaaacgtcaa
agacttaccgagccaatggtcagaaatgaaaaagggcttttaacctatacttcttgggag
gatgcgctctctcgcgtagctggaatgttgcagagttttcaaggcaaagatgtggcagca
attgcaggtggcttggtggatgctgaagccctggtagctctcaaagatttgcttaataga
gtggactctgacaccttatgcactgaagaggtcttccccactgcaggagctggcacagat
ttgcgttccaattatcttcttaatactacaattgctggtgtggaagaggcagatgttgtt
cttctggttggtacaaacccacgttttgaggcaccactgtttaatgctagaattcgaaag
agctggctgcataatgacttaaaagtggcccttataggcagtccagtggacctcacttac
acatatgaccacctgggagactcccccaaaattcttcaagacattgcttcgggaagccat
ccatttagccaggtcctaaaggaagctaaaaaaccaatggtggttttaggcagttctgca
ctccaaagaaatgatggagcagcaattcttgcagctgtttctagcattgcacaaaagatt
cggatgactagtggtgttactggtgattggaaagttatgaatatccttcataggattgca
agtcaagtagctgctttggaccttggctataagcctggggtggaagcaattcggaagaac
cctcccaaggtgctgtttctcctgggagcagatggaggttgtatcacacgacaggatttg
ccaaaggattgtttcattatttatcaaggacatcatggtgatgttggggctcccatagct
gatgttattctcccaggagctgcttacacagagaagtctgctacatatgtcaacactgag
ggtagagctcagcagactaaggtagcagtgacacctcctggcttggcaagagaagactgg
aaaattataagagcactctctgagattgctggaatgactcttccatatgatactctggat
caagtaaggaacagattggaagaagtctctcctaatcttgttcgatatgatgatattgaa
ggggctaattacttccagcaagcaaatgagctctcaaagctagtgaaccagcagcttctt
gctgacccacttgttccacctcagctaactataaaagacttctacatgacagattcaatt
agcagagcctcacagacaatggccaaatgtgtcaaagctgtcacagagggtgcccaggca
gtagaggaaccatccatatgctga

KEGG   Homo sapiens (human): 4720
Entry
4720              CDS       T01001                                 
Symbol
NDUFS2, CI-49, LHONAR2, MC1DN6
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S2
  KO
K03935  NADH dehydrogenase (ubiquinone) Fe-S protein 2 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4720 (NDUFS2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4720 (NDUFS2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4720 (NDUFS2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4720 (NDUFS2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4720 (NDUFS2)
   05012 Parkinson disease
    4720 (NDUFS2)
   05014 Amyotrophic lateral sclerosis
    4720 (NDUFS2)
   05016 Huntington disease
    4720 (NDUFS2)
   05020 Prion disease
    4720 (NDUFS2)
   05022 Pathways of neurodegeneration - multiple diseases
    4720 (NDUFS2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4720 (NDUFS2)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4720 (NDUFS2)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4720 (NDUFS2)
SSDB
Motif
Pfam: Complex1_49kDa NiFeSe_Hases
Other DBs
NCBI-GeneID: 4720
NCBI-ProteinID: NP_004541
OMIM: 602985
HGNC: 7708
Ensembl: ENSG00000158864
Pharos: O75306(Tclin)
UniProt: O75306
Structure
LinkDB
Position
1:161197417..161214395
AA seq 463 aa
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAH
WKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGT
EKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGL
MDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDD
AKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY
RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR
NT seq 1392 nt   +upstreamnt  +downstreamnt
atggcggcgctgagggctttgtgcggcttccggggcgtcgcggcccaggtgctgcggcct
ggggctggagtccgattgccgattcagcccagcagaggtgttcggcagtggcagccagat
gtggaatgggcacagcagtttgggggagctgttatgtacccaagcaaagaaacagcccac
tggaagcctccaccttggaatgatgtggaccctccaaaggacacaattgtgaagaacatt
accctgaactttgggccccaacacccagcagcgcatggtgtcctgcgactagtgatggaa
ttgagtggggagatggtgcggaagtgtgatcctcacatcgggctcctgcaccgaggcact
gagaagctcattgaatacaagacctatcttcaggcccttccatactttgaccggctagac
tatgtgtccatgatgtgtaacgaacaggcctattctctagctgtggagaagttgctaaac
atccggcctcctcctcgggcacagtggatccgagtgctgtttggagaaatcacacgtttg
ttgaaccacatcatggctgtgaccacacatgccctggaccttggggccatgacccctttc
ttctggctgtttgaagaaagggagaagatgtttgagttctacgagcgagtgtctggagcc
cgaatgcatgctgcttatatccggccaggaggagtgcaccaggacctaccccttgggctt
atggatgacatttatcagttttctaagaacttctctcttcggcttgatgagttggaggag
ttgctgaccaacaataggatctggcgaaatcggacaattgacattggggttgtaacagca
gaagaagcacttaactatggttttagtggagtgatgcttcggggctcaggcatccagtgg
gacctgcggaagacccagccctatgatgtttacgaccaggttgagtttgatgttcctgtt
ggttctcgaggggactgctatgataggtacctgtgccgggtggaggagatgcgccagtcc
ctgagaattatcgcacagtgtctaaacaagatgcctcctggggagatcaaggttgatgat
gccaaagtgtctccacctaagcgagcagagatgaagacttccatggagtcactgattcat
cactttaagttgtatactgagggctaccaagttcctccaggagccacatatactgccatt
gaggctcccaagggagagtttggggtgtacctggtgtctgatggcagcagccgcccttat
cgatgcaagatcaaggctcctggttttgcccatctggctggtttggacaagatgtctaag
ggacacatgttggcagatgtcgttgccatcataggtacccaagatattgtatttggagaa
gtagatcggtga

KEGG   Homo sapiens (human): 4722
Entry
4722              CDS       T01001                                 
Symbol
NDUFS3, CI-30, MC1DN8
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S3
  KO
K03936  NADH dehydrogenase (ubiquinone) Fe-S protein 3 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4722 (NDUFS3)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4722 (NDUFS3)
  09159 Environmental adaptation
   04714 Thermogenesis
    4722 (NDUFS3)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4722 (NDUFS3)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4722 (NDUFS3)
   05012 Parkinson disease
    4722 (NDUFS3)
   05014 Amyotrophic lateral sclerosis
    4722 (NDUFS3)
   05016 Huntington disease
    4722 (NDUFS3)
   05020 Prion disease
    4722 (NDUFS3)
   05022 Pathways of neurodegeneration - multiple diseases
    4722 (NDUFS3)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4722 (NDUFS3)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4722 (NDUFS3)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4722 (NDUFS3)
SSDB
Motif
Pfam: Complex1_30kDa
Other DBs
NCBI-GeneID: 4722
NCBI-ProteinID: NP_004542
OMIM: 603846
HGNC: 7710
Ensembl: ENSG00000213619
Pharos: O75489(Tclin)
UniProt: O75489
Structure
LinkDB
Position
11:47579074..47584562
AA seq 264 aa
MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSA
FGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVP
TRQNRFEIVYNLLSLRFNSRIRVKTYTDELTPIESAVSVFKAANWYEREIWDMFGVFFAN
HPDLRRILTDYGFEGHPFRKDFPLSGYVELRYDDEVKRVVAEPVELAQEFRKFDLNSPWE
AFPVYRQPPESLKLEAGDKKPDAK
NT seq 795 nt   +upstreamnt  +downstreamnt
atggcggcggcggcggtagccaggctgtggtggcgcgggatcttgggggcctcggcgctg
accagggggactgggcgaccctccgttctgttgctgccggtgaggcgggagagcgccggg
gccgacacgcgccccactgtcagaccacggaatgatgtggcccacaagcagctctcagct
tttggagagtatgtggctgaaatcttgcccaagtatgtccaacaagttcaggtgtcctgc
ttcaatgagttagaggtctgtatccatcctgatggcgtcatcccagtgctgactttcctc
agggatcacaccaatgcacagttcaaatctctggttgacttgacagcagtggacgtccca
actcggcaaaaccgttttgagattgtctacaacctgttgtctctgcgcttcaactcacgg
atccgtgtgaagacctacacagatgagctgacgcccattgagtctgctgtctctgtgttc
aaggcagccaactggtatgaaagggagatctgggacatgtttggagtcttctttgctaac
caccctgatctaagaaggatcctgacagattatggcttcgagggacatcctttccggaaa
gactttcctctatctggctatgttgagttacgttatgatgatgaagtgaagcgggtggtg
gcagagccggtggagttggcccaagagttccgcaaatttgacctgaacagcccctgggag
gctttcccagtctatcgccaacccccggagagtctcaagcttgaagccggagacaagaag
cctgatgccaagtag

KEGG   Homo sapiens (human): 4724
Entry
4724              CDS       T01001                                 
Symbol
NDUFS4, AQDQ, CI-18, CI-18_kDa, CI-AQDQ, MC1DN1
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit S4
  KO
K03937  NADH dehydrogenase (ubiquinone) Fe-S protein 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4724 (NDUFS4)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4724 (NDUFS4)
  09159 Environmental adaptation
   04714 Thermogenesis
    4724 (NDUFS4)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4724 (NDUFS4)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4724 (NDUFS4)
   05012 Parkinson disease
    4724 (NDUFS4)
   05014 Amyotrophic lateral sclerosis
    4724 (NDUFS4)
   05016 Huntington disease
    4724 (NDUFS4)
   05020 Prion disease
    4724 (NDUFS4)
   05022 Pathways of neurodegeneration - multiple diseases
    4724 (NDUFS4)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4724 (NDUFS4)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4724 (NDUFS4)
SSDB
Motif
Pfam: NDUS4 CSN8_PSD8_EIF3K
Other DBs
NCBI-GeneID: 4724
NCBI-ProteinID: NP_002486
OMIM: 602694
HGNC: 7711
Ensembl: ENSG00000164258
Pharos: O43181(Tclin)
UniProt: O43181 A0A0S2Z433
Structure
LinkDB
Position
5:53560639..53683338
AA seq 175 aa
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLD
ITTLTGVPEEHIKTRKVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADP
LSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSYGANFSWNKRTRVSTK
NT seq 528 nt   +upstreamnt  +downstreamnt
atggcggcggtgtcaatgtcagtggtactgaggcagacgttgtggcggagaagggcagtg
gctgtagctgccctttccgtttccagggttccgaccaggtcgttgaggacttccacatgg
agattggcacaggaccagactcaagacacacaactcataacagttgatgaaaaattggat
atcactactttaactggagttccagaagagcatataaaaactagaaaagtcaggatcttt
gttcctgctcgcaataacatgcagtctggagtaaacaacacaaagaaatggaagatggag
tttgataccagagagcgatgggaaaatcctttgatgggttgggcatcaacggctgatccc
ttatccaacatggttctaaccttcagtactaaagaagatgcagtttcctttgcagaaaaa
aatggatggagctatgacattgaagagaggaaggttccaaaacccaagtccaagtcttat
ggtgcaaacttttcttggaacaaaagaacaagagtatccacaaaatag

KEGG   Homo sapiens (human): 4726
Entry
4726              CDS       T01001                                 
Symbol
NDUFS6, CI-13kA, CI-13kD-A, CI13KDA, MC1DN9
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit S6
  KO
K03939  NADH dehydrogenase (ubiquinone) Fe-S protein 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4726 (NDUFS6)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4726 (NDUFS6)
  09159 Environmental adaptation
   04714 Thermogenesis
    4726 (NDUFS6)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4726 (NDUFS6)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4726 (NDUFS6)
   05012 Parkinson disease
    4726 (NDUFS6)
   05014 Amyotrophic lateral sclerosis
    4726 (NDUFS6)
   05016 Huntington disease
    4726 (NDUFS6)
   05020 Prion disease
    4726 (NDUFS6)
   05022 Pathways of neurodegeneration - multiple diseases
    4726 (NDUFS6)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4726 (NDUFS6)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4726 (NDUFS6)
SSDB
Motif
Pfam: zf-CHCC Thiolase_C
Other DBs
NCBI-GeneID: 4726
NCBI-ProteinID: NP_004544
OMIM: 603848
HGNC: 7713
Ensembl: ENSG00000145494
Pharos: O75380(Tclin)
UniProt: O75380 Q6IBC4
Structure
LinkDB
Position
5:1801407..1816048
AA seq 124 aa
MAAAMTFCRLLNRCGEAARSLPLGARCFGVRVSPTGEKVTHTGQVYDDKDYRRIRFVGRQ
KEVNENFAIDLIAEQPVSEVETRVIACDGGGGALGHPKVYINLDKETKTGTCGYCGLQFR
QHHH
NT seq 375 nt   +upstreamnt  +downstreamnt
atggcggcggcgatgaccttctgccggctgctgaaccggtgtggcgaggcggcgcggagc
ctgcccctgggcgccaggtgtttcggggtgcgggtctcgccgaccggggagaaggtcacg
cacactggccaggtttatgatgataaagactacaggagaattcggtttgtaggtcgtcag
aaagaggtgaatgaaaactttgccattgatttgatagcagagcagcccgtgagcgaggtg
gagactcgggtgatagcgtgcgatggcggcgggggagctcttggccacccaaaagtgtat
ataaacttggacaaagaaacaaaaaccggcacatgcggttactgtgggctccagttcaga
cagcaccaccactag

KEGG   Homo sapiens (human): 374291
Entry
374291            CDS       T01001                                 
Symbol
NDUFS7, CI-20, CI-20KD, MC1DN3, MY017, PSST
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S7
  KO
K03940  NADH dehydrogenase (ubiquinone) Fe-S protein 7 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    374291 (NDUFS7)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    374291 (NDUFS7)
  09159 Environmental adaptation
   04714 Thermogenesis
    374291 (NDUFS7)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    374291 (NDUFS7)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    374291 (NDUFS7)
   05012 Parkinson disease
    374291 (NDUFS7)
   05014 Amyotrophic lateral sclerosis
    374291 (NDUFS7)
   05016 Huntington disease
    374291 (NDUFS7)
   05020 Prion disease
    374291 (NDUFS7)
   05022 Pathways of neurodegeneration - multiple diseases
    374291 (NDUFS7)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    374291 (NDUFS7)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    374291 (NDUFS7)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     374291 (NDUFS7)
SSDB
Motif
Pfam: Oxidored_q6 Secapin
Other DBs
NCBI-GeneID: 374291
NCBI-ProteinID: NP_077718
OMIM: 601825
HGNC: 7714
Ensembl: ENSG00000115286
Pharos: O75251(Tclin)
UniProt: O75251 Q7LD69
Structure
LinkDB
Position
19:1383907..1395584
AA seq 213 aa
MAVLSAPGLRGFRILGLRSSVGPAVQARGVHQSVATDGPSSTQPALPKARAVAPKPSSRG
EYVVAKLDDLVNWARRSSLWPMTFGLACCAVEMMHMAAPRYDMDRFGVVFRASPRQSDVM
IVAGTLTNKMAPALRKVYDQMPEPRYVVSMGSCANGGGYYHYSYSVVRGCDRIVPVDIYI
PGCPPTAEALLYGILQLQRKIKRERRLQIWYRR
NT seq 642 nt   +upstreamnt  +downstreamnt
atggcggtgctgtcagctcctggcctgcgcggcttccggatccttggtctgcgctccagc
gtgggcccggctgtgcaggcacgaggtgtccatcagagcgtggccaccgatggcccaagc
agcacccagcctgccctgccaaaggccagagccgtggctcccaaacccagcagccggggc
gagtatgtggtggccaagctggatgacctcgtcaactgggcccgccggagttctctgtgg
cccatgaccttcggcctggcctgctgcgccgtggagatgatgcacatggcagcaccccgc
tacgacatggaccgctttggcgtggtcttccgcgccagcccgcgccagtccgacgtcatg
atcgtggccggcacactcaccaacaagatggccccagcgcttcgcaaggtctacgaccag
atgccggagccgcgctacgtggtctccatggggagctgcgccaacggaggaggctactac
cactattcctactcggtggtgaggggctgcgaccgcatcgtgcccgtggacatctacatc
ccaggctgcccacctacggccgaggccctgctctacggcatcctgcagctgcagaggaag
atcaagcgggagcggaggctgcagatctggtaccgcaggtag

KEGG   Homo sapiens (human): 4728
Entry
4728              CDS       T01001                                 
Symbol
NDUFS8, CI-23k, CI23KD, MC1DN2, TYKY
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S8
  KO
K03941  NADH dehydrogenase (ubiquinone) Fe-S protein 8 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4728 (NDUFS8)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4728 (NDUFS8)
  09159 Environmental adaptation
   04714 Thermogenesis
    4728 (NDUFS8)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4728 (NDUFS8)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4728 (NDUFS8)
   05012 Parkinson disease
    4728 (NDUFS8)
   05014 Amyotrophic lateral sclerosis
    4728 (NDUFS8)
   05016 Huntington disease
    4728 (NDUFS8)
   05020 Prion disease
    4728 (NDUFS8)
   05022 Pathways of neurodegeneration - multiple diseases
    4728 (NDUFS8)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4728 (NDUFS8)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4728 (NDUFS8)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4728 (NDUFS8)
SSDB
Motif
Pfam: Fer4 Fer4_7 Fer4_16 Fer4_21 Fer4_6 Fer4_9 Fer4_8 Fer4_2 Fer4_10 Fer4_4 Fer4_17 Fer4_3
Other DBs
NCBI-GeneID: 4728
NCBI-ProteinID: NP_002487
OMIM: 602141
HGNC: 7715
Ensembl: ENSG00000110717
Pharos: O00217(Tclin)
UniProt: O00217
Structure
LinkDB
Position
11:68030681..68036644
AA seq 210 aa
MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLL
WTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAI
CPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEACPVDAIVEGPNFEFSTETHEE
LLYNKEKLLNNGDKWEAEIAANIQADYLYR
NT seq 633 nt   +upstreamnt  +downstreamnt
atgcgctgcctgaccacgcctatgctgctgcgggccctggcccaggctgcacgtgcagga
cctcctggtggccggagcctccacagcagtgcagtggcagccacctacaagtatgtgaac
atgcaggatcccgagatggacatgaagtcagtgactgaccgggcagcccgcaccctgctg
tggactgagctcttccgaggcctgggcatgaccctgagctacctgttccgggaaccggcc
accatcaactacccgttcgagaagggcccgctgagccctcgcttccgtggggagcatgcg
ctgcgccggtacccatccggggaggagcgttgcattgcctgcaagctctgcgaggccatc
tgccccgcccaggccatcaccatcgaggctgagccaagagctgatggcagccgccggacc
acccgctatgacatcgacatgaccaagtgcatctactgcggcttctgccaggaggcctgt
cccgtggatgccatcgtcgagggccccaactttgagttctccacggagacccatgaggag
ctgctgtacaacaaggagaagttgctcaacaacggggacaagtgggaggccgagatcgcc
gccaacatccaggctgactacttgtatcggtga

KEGG   Homo sapiens (human): 4723
Entry
4723              CDS       T01001                                 
Symbol
NDUFV1, CI-51K, CI51KD, MC1DN4, UQOR1
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit V1
  KO
K03942  NADH dehydrogenase (ubiquinone) flavoprotein 1 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4723 (NDUFV1)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4723 (NDUFV1)
  09159 Environmental adaptation
   04714 Thermogenesis
    4723 (NDUFV1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4723 (NDUFV1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4723 (NDUFV1)
   05012 Parkinson disease
    4723 (NDUFV1)
   05014 Amyotrophic lateral sclerosis
    4723 (NDUFV1)
   05016 Huntington disease
    4723 (NDUFV1)
   05020 Prion disease
    4723 (NDUFV1)
   05022 Pathways of neurodegeneration - multiple diseases
    4723 (NDUFV1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4723 (NDUFV1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4723 (NDUFV1)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4723 (NDUFV1)
SSDB
Motif
Pfam: Complex1_51K NADH_4Fe-4S SLBB_2 SLBB
Other DBs
NCBI-GeneID: 4723
NCBI-ProteinID: NP_009034
OMIM: 161015
HGNC: 7716
Ensembl: ENSG00000167792
Pharos: P49821(Tclin)
UniProt: P49821 E5KNH5
Structure
LinkDB
Position
11:67606936..67612554
AA seq 464 aa
MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRG
DWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEG
EPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAG
LIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPT
TVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELI
EKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRS
TDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEIDSLWEISKQIE
GHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS
NT seq 1395 nt   +upstreamnt  +downstreamnt
atgctggcaacacggcggctgctcggctggtcgcttcccgcgcgggtatctgtgcgtttc
agcggcgacacgacagcacccaagaaaacctcatttggctcgctgaaggatgaagaccgg
attttcaccaacctgtacggccgccatgactggaggctgaaaggttccctgagtcgaggt
gactggtacaagacaaaggagatcctgctgaaggggcccgactggatcctgggcgagatc
aagacatcgggtttgaggggccgtggaggcgctggcttccccactggcctcaagtggagc
ttcatgaataagccctcagatggcaggcccaagtatctggtggtgaacgcagacgagggg
gagccgggcacctgcaaggaccgggagatcttacgccatgatcctcacaagctgctggaa
ggctgcctggtggggggccgggccatgggcgcccgcgctgcctatatctacatccgaggg
gaattctacaatgaggcctccaatctgcaggtggccatccgagaggcctatgaggcaggt
ctgattggcaagaatgcttgtggctctggctatgattttgacgtgtttgtggtgcgcggg
gctggggcctacatctgtggagaggagacagcgctcatcgagtccattgagggcaagcag
ggcaagccccgcctgaagccccccttccccgcagacgtgggagtgtttggctgccccaca
actgtggccaacgtggagacagtggcagtgtcccccacaatctgccgccgtggaggtacc
tggtttgctggctttggcagagaacgcaactcaggcaccaaactattcaacatctctggc
catgtcaaccacccttgcactgtggaggaggagatgtctgtgcccttgaaagaactgatt
gagaagcatgctgggggtgtcacgggcggctgggacaacctccttgctgtgatccctggc
ggctcgtctaccccactgatccccaagtctgtgtgtgagacggtgctgatggacttcgat
gcgctggtgcaggcacagacaggcctgggcacagctgcggtgatcgtcatggaccgctcg
acggacatcgtgaaagccatcgcccgcctcattgagttctataagcacgagagctgtggc
cagtgtaccccatgccgtgagggtgtggactggatgaacaaggtgatggcacgtttcgtg
aggggggatgcccggccggccgagatcgactccctgtgggagatcagcaagcagatagaa
ggccatacgatttgtgctctgggtgacggggccgcctggcctgtgcagggtctgatccgc
cactttcggccggagctcgaggagcggatgcagcggtttgcccagcagcatcaggcccgg
caggctgcctcttag

KEGG   Homo sapiens (human): 4729
Entry
4729              CDS       T01001                                 
Symbol
NDUFV2, CI-24k, MC1DN7
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit V2
  KO
K03943  NADH dehydrogenase (ubiquinone) flavoprotein 2 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4729 (NDUFV2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4729 (NDUFV2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4729 (NDUFV2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4729 (NDUFV2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4729 (NDUFV2)
   05012 Parkinson disease
    4729 (NDUFV2)
   05014 Amyotrophic lateral sclerosis
    4729 (NDUFV2)
   05016 Huntington disease
    4729 (NDUFV2)
   05020 Prion disease
    4729 (NDUFV2)
   05022 Pathways of neurodegeneration - multiple diseases
    4729 (NDUFV2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4729 (NDUFV2)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4729 (NDUFV2)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4729 (NDUFV2)
SSDB
Motif
Pfam: 2Fe-2S_thioredx Androglobin_II
Other DBs
NCBI-GeneID: 4729
NCBI-ProteinID: NP_066552
OMIM: 600532
HGNC: 7717
Ensembl: ENSG00000178127
Pharos: P19404(Tclin)
UniProt: P19404
Structure
LinkDB
Position
18:9102699..9134341
AA seq 249 aa
MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENY
KRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNKVAEVLQVPPMRVYEVATFYT
MYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGAC
VNAPMVQINDNYYEDLTAKDIEEIIDELKAGKIPKPGPRSGRFSCEPAGGLTSLTEPPKG
PGFGVQAGL
NT seq 750 nt   +upstreamnt  +downstreamnt
atgttcttctccgcggcgctccgggcccgggcggctggcctcaccgcccactggggaaga
catgtaaggaatttgcataagacagttatgcaaaatggagctggaggagctttatttgtg
cacagagatactcctgagaataaccctgatactccatttgatttcacaccagaaaactat
aagaggatagaggcaattgtaaaaaactatccagaaggccataaagcagcagctgttctt
ccagtcctggatttagcccaaaggcagaatgggtggttgcccatctctgctatgaacaag
gttgcagaagttttacaagtacctccaatgagagtatatgaagtagcaactttttataca
atgtataatcgaaagccagttggaaagtatcacattcaggtctgcactactacaccctgc
atgcttcgaaactctgacagcatactggaggccattcagaaaaagcttggaataaaggtt
ggggagactacacctgacaaacttttcactcttatagaagtggaatgtttaggggcctgt
gtgaacgcaccaatggttcaaataaatgacaattactatgaggatttgacagctaaggat
attgaagaaattattgatgagctcaaggctggcaaaatcccaaaaccagggccaaggagt
ggacgcttctcttgtgagccagctggaggtcttacctctttgactgaaccacccaaggga
cctggatttggtgtacaagcaggcctttaa

KEGG   Homo sapiens (human): 4694
Entry
4694              CDS       T01001                                 
Symbol
NDUFA1, CI-MWFE, MC1DN12, MWFE, ZNF183
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A1
  KO
K03945  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4694 (NDUFA1)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4694 (NDUFA1)
  09159 Environmental adaptation
   04714 Thermogenesis
    4694 (NDUFA1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4694 (NDUFA1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4694 (NDUFA1)
   05012 Parkinson disease
    4694 (NDUFA1)
   05014 Amyotrophic lateral sclerosis
    4694 (NDUFA1)
   05016 Huntington disease
    4694 (NDUFA1)
   05020 Prion disease
    4694 (NDUFA1)
   05022 Pathways of neurodegeneration - multiple diseases
    4694 (NDUFA1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4694 (NDUFA1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4694 (NDUFA1)
SSDB
Motif
Pfam: MWFE
Other DBs
NCBI-GeneID: 4694
NCBI-ProteinID: NP_004532
OMIM: 300078
HGNC: 7683
Ensembl: ENSG00000125356
Pharos: O15239(Tclin)
UniProt: O15239 Q6IBB5
Structure
LinkDB
Position
X:119871832..119876662
AA seq 70 aa
MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYHWSLMERDRRISGVDRY
YVSKGLENID
NT seq 213 nt   +upstreamnt  +downstreamnt
atgtggttcgagattctccccggactctccgtcatgggcgtgtgcttgttgattccagga
ctggctactgcgtacatccacaggttcactaacgggggcaaggaaaaaagggttgctcat
tttgggtatcactggagtctgatggaaagagataggcgcatctctggagttgatcgttac
tatgtgtcaaagggtttggagaacattgattaa

DBGET integrated database retrieval system